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Peroxisomal biogenesis disorders are a group of rare genetic disorders due to impairment in one or more peroxisomal function. Infantile Refsum disease (IRD) is a peroxisomal biogenesis disorder caused by a defect in phytanic acid metabolism. We report the case of a 6-year-old boy who presented with developmental delay, ataxia, hypotonia, areflexia, vision and hearing impairment, dysmorphism, and hepatomegaly. His plasma very long chain fatty acids analysis revealed increased levels of phytanic acid, pristanic acid, and higher ratios of C24/22 and C26/22 than the normal. This confirmed the diagnosis of IRD in our case. Magnetic resonance imaging revealed progressive white matter changes involving cerebral white matter, cerebellar white matter, and dentate nuclei of the cerebellum, along with progressive corticocerebellar atrophy which have been infrequently described in the literature. Owing to the rarity of cases of IRD being reported especially from India, and the peculiar imaging findings, we wish to report this case.

Glucose transporter 1 deficiency syndrome (GLUT1 DS) is a treatable neurometabolic condition caused by impaired glucose transport across the blood–brain barrier. The phenotypic spectrum of this condition has expanded with complex movement disorders being increasingly recognized in affected patients. We present a 10-year-old boy who was brought to our institute with developmental delay, infantile-onset epilepsy with multiple seizure types, paroxysmal ataxia more marked in the morning, fatigability with leg pains, and behavioral issues. His cerebrospinal fluid (CSF) analysis showed hypoglycorrhachia with normal blood glucose, which clinched the diagnosis of GLUT1 DS. He responded very well to ketogenic diet. Thus, in case of refractory epilepsy or complex movement disorder, CSF analysis may provide a clue for the diagnosis of GLUT1 DS. Early recognition helps in prompt initiation of treatment with the ketogenic diet and leads to a favorable outcome.